A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2007549



Internal ID17801867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22570272..22573474hg38UCSC Ensembl
Innerchr15:23299622..23302824hg19UCSC Ensembl
Innerchr15:20851063..20854265hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg383203
hg193203
hg183203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974524
Supporting Variants
SamplesHGDP00778
Known GenesHERC2P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2007549
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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